Inclusion of medical genetics in primary health care: report of a pilot project in Brazil
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CASE REPORT
Inclusion of medical genetics in primary health care: report of a pilot project in Brazil Taiane Alves Vieira & Camila Giugliani & Larissa Pozzebon da Silva & Lavínia Schuler Faccini & Júlio César Loguercio Leite & Osvaldo Alfonso Pinto Artigalás & Maria Lúcia Medeiros Lenz & Maria Verónica Muñoz-Rojas & Roberto Giugliani Received: 1 March 2012 / Accepted: 21 June 2012 / Published online: 25 July 2012 # Springer-Verlag 2012
Over the past few decades, several advances have been made in our knowledge of the genetic basis of diseases, prompting particular attention to the prevention and control of this determinant and to the adequate management of those affected or at risk of developing genetic conditions. The causes of genetic disease are manifold, and a variety of approaches are thus required for their prevention and to ensure better care of patients and families. In 2000, the World Health Organization (WHO) proposed that interventions for prevention and control of genetic disorders and congenital malformations should be added to the primary health care (PHC) framework (WHO 2000).
The main characteristic of PHC is its status as the first contact to the health system, providing comprehensive, continuous care over time and coordinating the care received by individuals and families at the various points of care throughout the health system. Other defining characteristics of PHC include its family- and community-oriented nature and cultural competence (Starfield 1992). At the interface between genetics and PHC is the field of community genetics. In 1998, Leo ten Kate defined community genetics as “bringing genetic services to the community as a whole.” (ten Kate 1998) The author later expanded this definition, describing community genetics as “the art and science of the responsible and realistic application of health and disease-related genetics and genomics
T. A. Vieira : R. Giugliani Postgraduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
C. Giugliani Department of Social Medicine, Universidade Federal do Rio Grande do Sul School of Medicine, Porto Alegre, Brazil
Introduction
T. A. Vieira (*) : L. P. da Silva : L. S. Faccini : J. C. Loguercio Leite : O. A. P. Artigalás : M. V. Muñoz-Rojas : R. Giugliani Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS, Brazil CEP 90035-903 e-mail: [email protected]
L. S. Faccini : R. Giugliani Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil O. A. P. Artigalás Children’s Hospital, Grupo Hospitalar Conceição, Porto Alegre, Brazil
T. A. Vieira : L. S. Faccini : R. Giugliani INaGeMP—Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil
M. L. Medeiros Lenz Community Health Service, Grupo Hospitalar Conceição, Porto Alegre, Brazil
T. A. Vieira Bioethics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
Present Address: M. V. Muñoz-Rojas Medical Department, Genzyme do Brasil, São Pa
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